Gene: [08q24/EBS1] epidermolysis bullosa simplex 1 (Ogna);
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HET |
Over 20 types of epidermolysis bullosa are known; they are described in OMIM (autosomal dominant types: MIM:131705, MIM:131750, MIM:131760, MIM:131800, MIM:131850, MIM:131880, MIM:131900, MIM:131950, MIM:131960, MIM:132000; autosomal recessive types: MIM:226440, MIM:226450, MIM:226500, MIM:226600, MIM:226650, MIM:226670, MIM:226700, MIM:226730, MIM:226735, MIM:601001; and an X-linked type MIM:302000)." |
|
FAG |
Some types of epidermolysis bullosa are currently mapped, including this simplex type: GEM:12q1/KRT5, GEM:17q2/KRT14, GEM:03p213/COL7A1, GEM:11q223/MMP1, GEM:06p1/BPAG1, GEM:08q24/PLEC1, GEM:0X^/EBM. Another type is assigned to LG4, the fourth of the nonspecified linkage groups (GEM:00.4/EBR3)." |
|
LIN |
EBS1 gene is linked to glutamic-pyruvate transaminase gene (GEM:08q243/GPT) located about 3cM apart (Olaisen-1973)." |
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REF |
LIN,PAT,FOG "Gedde-Dahl T &: CCG, 37, (HGM7), 474-475, 1984 LIN,PAT,FOG "Olaisen B, Gedde-Dahl T: Hum Hered, 23, 189-196, 1973 |
|
KEY |
derm |
|
CLA |
unknown, basic |
|
LOC |
08 q24 |
|
MIM |
MIM: 131950 |
